List of variants in gene CACNA1A reported as likely pathogenic by Athena Diagnostics Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2105-2A>G	rs906086634	0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)	rs121908243	0.00001
NM_001127222.2(CACNA1A):c.104del (p.Gly35fs)	rs1568720031
NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs)
NM_001127222.2(CACNA1A):c.3261_3316del (p.Leu1090fs)	rs1555752975
NM_001127222.2(CACNA1A):c.399+1G>C	rs2060983144
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)	rs121908220
NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg)	rs1555738200
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)	rs1568446845
NM_001127222.2(CACNA1A):c.6408_6409insTAGCCTG (p.Asp2137Ter)	rs2054719760

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